Judith Beatriz Pupo-Balboa

• PhD, MD
• Researcher at Centro Nacional de Genética Médica

ntroduction: Fanconi anemia is a rare genetic disease of autosomal inheritance or X-linked, characterized by genomic instability and hypersensitivity to DNA cross-linking agents like diepoxybutane and mitomycin C (MMC). The basis for its diagnosis is an abnormal response to these substances, which constitutes a unique cell marker and manifests as a...

Objective: To identify individual differences in the basal damage (DB) of peripheral leukocyte DNA from women with cancer in remission. Methods: Cross-sectional analytical study in which 24 women with cancer in remission from different locations and 24 supposedly healthy women participated. The alkaline comet assay and the neutral variant were use...

Introducción: La anemia de Fanconi es una enfermedad genética rara, de herencia autosómica o ligada al X, caracterizada por inestabilidad genómica e hipersensibilidad a los agentes de entrecruzamiento del ADN, como el diepoxibutano y la mitomicina C (MMC). La respuesta anormal a estas sustancias, que constituye un marcador celular único y se manifi...

Introduction: In advanced stages of non-small cell lung cancer (NSCLC), treatment is based primarily on polychemotherapy. The sensitivity and the phenomena of chemoresistance to the treatments used depend, among other factors, on the functionality of the various DNA repair mechanisms. Objective: To evaluate the effect of polychemotherapy with cispl...

Introduction Oxidative DNA damage, a biomarker used in peripheral blood studies related to cancer and other diseases, may be modulated by plasma antioxidant capacity (TAC), the levels of reduced glutathione (GSH) and the DNA repair ability. Objectives To determine endogenous and oxidative DNA damage, lymphocyte DNA repair capacity against hydrogen...

Introduction Primary Dyslipidemia is a group of genetic disorders of lipid metabolism. Biomolecules oxidative damage has been reported in those patients, although DNA repair capacity is less reported. The aim of this work is evaluate oxidative stress biomarkers and DNA repair capacity in dyslipidemic patients. Material and Methods Plasma levels of...

Reparación por escisión de nucleótidos y estado redox en pacientes cubanos con hipersensibilidad a las radiaciones solares. Excision nucleotide repair and redox status in Cuban patients with hypersensitivity to solar radiation. Resumen Introducción: La radiación ultravioleta es un factor principal en el desarrollo de cáncer de piel mediante la form...

Mechanisms of DNA repair and oxidative stress may be involved as possible modifiers of the phenotype present in the Gorlin syndrome. The objective of this study was to assess the levels of endogenous DNA damage and repair efficiency when DNA damage is induced with hydrogen peroxide, in addition to oxidative damage to lipids and proteins, as well as...

Introduction: Ultraviolet radiation is a major factor in the development of skin cancer through the formation of photodimers in the genome and reactive oxygen species. Other factors such as a fair skin phenotype, DNA repair mechanisms deficiencies, and genetic variants in skin pig- mentation and / or repair genes, influence the development of...

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder which displays considerable inter- and intra- familial variability in phenotypic expression. NF1 is characterized particularly by café-au-lait spots and fibromatous tumors of the skin. In this study, the comet assay was used to evaluate levels of basal single strand breaks, H2O2 ox...

Daño al ADn y capacidad de reparación en pacientes con hiperlipoproteinemias primarias. DnA damage and repair capacity in patients with primary hyperlipoproteinemias. pacientes con hiperlipoproteinemias primarias. Se estudiaron 6 pacientes procedentes de la clínica de lípidos del Hospital Hermanos Ameijeiras con diagnóstico de hiperlipoproteinemias...

Recent evidences suggest that increased oxidative dam- age as well as deficits in antioxidants defense systems could be related to the pathogenesis of some heredi- tary ataxias. The aim of this study was to investigate some redox status biomarkers in patient with spinocer- ebellar ataxia type 2. Samples from 33 patients and 22 control subjects,...

El Síndrome Down constituye la cromosomopatía más frecuente y la primera causa de retraso mental de causa genética a nivel mundial y en Cuba. Aún se desconoce cómo la presencia del cromosoma 21 extra da lugar al fenotipo característico de este síndrome. En este sentido la participación de las especies reactivas del oxígeno ha sido propuesta como un...

12 RESUMEN Objetivo: Determinar el comportamiento de marcadores de estrés oxidativo y genotoxicidad en individuos expuestos ocupacionalmente por tiempos prolongados al mercurio. Material y método: Fue estu-diado un total de 55 sujetos, de ellos, 12 trabajadores, con edades comprendidas entre 25 y 56 años, expuestos al mercurio por períodos de 6 a 3...

Acta Bioquímica Clínica Latinoamericana Incorporada al Chemical Abstracts Service. Código bibliográfico: ABCLDL. ISSN 0325-2957 (Impresa) ISSN 1851-6114 (En línea) ISSN 1852-396X (CD-ROM) Resumen El ADN de las células humanas está sujeto de forma constante a diferentes tipos de daños debido a factores ambientales y a procesos metabólicos propios de...

Introduction: deficiencies in the deoxyribonucleic acid repair mechanisms are a risk factor for cancer as is the case of xeroderma pigmentosum. Objectives: to evaluate the phenotype of nucleotide excision repair in Cuban sun hypersensitive patients with clinical suspicion of xeroderma pigmentosum at erythematopigmentary phase, by using the Come...

Human cell DNA is constantly subject to different types of damage due to environmental factors and metabolic processes of the same cell, which cause genomic instability if not repaired and completely renewed. Consequently, DNA damage has been used as a biomarker in human biomonitoring. The aim of this study was to determine basal DNA damage in lymp...

Fanconi anemia (FA) is a chromosomal instability syndrome characterized by various dysmorphic features, progressive pancytopenia and predisposition to hematological malignancies. The assay sensitivity to mitomycin C (MMC) provides a unique cell marker for the diagnosis of the disease. In order to introduce this chromosomal breakage test the techniq...

Fanconi anemia (FA) is a chromosomal instability syndrome characterized by various dysmorphic features, progressive pancytopenia and predisposition to hematological malignancies. The assay sensitivity to mitomycin C (MMC) provides a unique cell marker for the diagnosis of the disease. In order to introduce this chromosomal breakage test the techniq...

Introduction: deficiencies in the deoxyribonucleic acid repair mechanisms are a risk factor for cancer as is the case of xeroderma pigmentosum. Objectives: to evaluate the phenotype of nucleotide excision repair in Cuban sun hypersensitive patients with clinical suspicion of xeroderma pigmentosum at erythematopigmentary phase, by using the Comet as...

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. NF1 is characterized particularly by café-au-lait spots and fibromatous tumors of the skin. In this study, the comet assay was used to evaluate levels of basal single strand breaks, H2O2 oxidat...

Methods: Twenty eight patients mainly at pediatric ages were studied. The used DNA damage inducer was ultraviolet radiation C (254 nm) at 40 J/m2 dose. The DNA damage was quantified immediately after cell irradiation (0 minutes) and some time afterwards, then cultured at 37 ºC and enriched with 10 % fetal serum (45 minutes). This data allowed deter...

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. NF1 is characterized particularly by café-au-lait spots and fibromatous tumors of the skin. In this study, the comet assay was used to evaluate levels of basal single strand breaks, H2O2 oxidat...

Introduction: Infertility affects approximately 15% of all couples trying to conceive, male factor is the sole or contributing factor in roughly half of cases infertility. Men with normal semen analysis may also have a high degree of DNA fragmentation, which can be a major cause of undiagnosed/unexplained infertility. In this work, we estimate the...

The glutathione peroxidase is one of the enzymes that takes part in the transformations of reactive oxygen species, catalyzing the reduction of peroxide or lipoperoxide. The reduced glutathione is used as a reductor agent. This enzyme plays an important role in the antioxidant defense due to its localization in every organ and tissue as part of the...